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Pathogenic variants in both <jats:italic>CREBBP<\/jats:italic> and <jats:italic>EP300<\/jats:italic> have been associated with RSTS. Here we present a case of a female with hyperinsulinism and features consistent with RSTS, found to have a pathogenic variant in <jats:italic>EP300<\/jats:italic>. While there have been a few rare case reports of hyperinsulinism in RSTS, we suggest that hyperinsulinism might be a more prominent feature in <jats:italic>EP300<\/jats:italic> variant RSTS than previously recognized.<\/jats:p>","DOI":"10.1002\/ajmg.a.62085","type":"journal-article","created":{"date-parts":[[2021,1,15]],"date-time":"2021-01-15T18:42:39Z","timestamp":1610736159000},"page":"1251-1255","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":5,"title":["Hyperinsulinism in an individual with an <scp><i>EP300<\/i><\/scp> variant of <scp>Rubinstein\u2010Taybi<\/scp> syndrome"],"prefix":"10.1002","volume":"185","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-0016-078X","authenticated-orcid":false,"given":"K. Taylor","family":"Wild","sequence":"first","affiliation":[{"name":"Division of Human Genetics The Children's Hospital of Philadelphia  Philadelphia Pennsylvania USA"},{"name":"Department of Pediatrics, The Perelman School of Medicine University of Pennsylvania  Philadelphia Pennsylvania USA"},{"name":"Division of Neonatology The Children's Hospital of Philadelphia  Philadelphia Pennsylvania USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tomoki T.","family":"Nomakuchi","sequence":"additional","affiliation":[{"name":"Division of Human Genetics The Children's Hospital of Philadelphia  Philadelphia Pennsylvania USA"},{"name":"Department of Pediatrics, The Perelman School of Medicine University of Pennsylvania  Philadelphia Pennsylvania USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3480-8123","authenticated-orcid":false,"given":"Sarah E.","family":"Sheppard","sequence":"additional","affiliation":[{"name":"Division 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